Variant report

Variant	rs5030611
Chromosome Location	chr6:30313227-30313228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30293960..30295031-chr6:30312956..30313507,3	Hela-S3	cervix:
2	chr6:30225542..30228363-chr6:30311426..30313496,2	MCF-7	breast:
3	chr6:30311691..30313259-chr6:30331666..30334647,2	K562	blood:
4	chr6:30178310..30184484-chr6:30311860..30320436,13	MCF-7	breast:
5	chr1:45987252..45988185-chr6:30312832..30313360,2	Hela-S3	cervix:
6	chr6:30273472..30275726-chr6:30312691..30314327,2	MCF-7	breast:
7	chr20:47538415..47539934-chr6:30312760..30314556,2	MCF-7	breast:
8	chr6:30261501..30265546-chr6:30310228..30314438,4	K562	blood:
9	chr6:30170658..30173210-chr6:30313081..30315587,2	K562	blood:
10	chr11:71823213..71823772-chr6:30312858..30313568,2	Hela-S3	cervix:
11	chr1:52520832..52521429-chr6:30312644..30313323,2	Hela-S3	cervix:
12	chr6:30226682..30228906-chr6:30311932..30314057,2	MCF-7	breast:
13	chr16:31191531..31192208-chr6:30312969..30313543,2	Hela-S3	cervix:
14	chr6:30028283..30029937-chr6:30312414..30314218,2	K562	blood:
15	chr6:30311779..30313708-chr6:30523664..30525763,2	MCF-7	breast:
16	chr3:182971557..182972401-chr6:30312861..30313450,2	Hela-S3	cervix:
17	chr6:27114921..27115555-chr6:30312632..30313449,2	Hela-S3	cervix:
18	chr6:30312350..30314370-chr6:30326387..30329065,2	MCF-7	breast:
19	chr6:30293058..30297784-chr6:30308514..30315279,24	MCF-7	breast:
20	chr6:30312149..30313971-chr6:30583567..30587070,3	K562	blood:
21	chr6:30312087..30314441-chr6:30330908..30332882,2	MCF-7	breast:
22	chr6:30028283..30030226-chr6:30312404..30313914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117862	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000176597	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000066379	Chromatin interaction
ENSG00000224486	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204623	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000236405	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000248167	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000124198	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000243753	Chromatin interaction
ENSG00000204576	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12174823	0.84[EUR][1000 genomes]
rs1579218	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1579219	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2023477	0.85[ASN][1000 genomes]
rs2240058	0.84[EUR][1000 genomes]
rs2285798	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2394779	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2894145	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3778626	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56183729	0.84[EUR][1000 genomes]
rs9295844	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9357095	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9366755	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368628	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9368632	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9368633	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380173	0.84[EUR][1000 genomes]
rs9391679	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9391762	0.85[EUR][1000 genomes]
rs9391806	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9391807	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9393999	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394000	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394002	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs974962	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5030611	RPP21	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30312400-30313400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:30312400-30313400	Active TSS	Adipose Nuclei	Adipose
3	chr6:30312400-30313600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:30312400-30313600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:30312400-30313600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:30312400-30313600	Active TSS	Fetal Kidney	kidney
7	chr6:30312400-30313600	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:30312400-30313600	Active TSS	A549	lung
9	chr6:30312400-30313800	Active TSS	Colonic Mucosa	Colon
10	chr6:30312400-30314000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:30312400-30314000	Enhancers	Fetal Heart	heart
12	chr6:30312600-30313400	Active TSS	Osteobl	bone
13	chr6:30312600-30313600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:30312600-30313600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:30312600-30313600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:30312600-30313600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:30312600-30313600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:30312600-30313600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:30312600-30313600	Active TSS	Primary hematopoietic stem cells	blood
20	chr6:30312600-30313600	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr6:30312600-30313600	Active TSS	Brain Cingulate Gyrus	brain
22	chr6:30312600-30313600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:30312600-30313600	Active TSS	Fetal Brain Female	brain
24	chr6:30312600-30313600	Active TSS	Fetal Intestine Small	intestine
25	chr6:30312600-30313600	Active TSS	Fetal Lung	lung
26	chr6:30312600-30313600	Active TSS	Left Ventricle	heart
27	chr6:30312600-30313600	Active TSS	Ovary	ovary
28	chr6:30312600-30313600	Active TSS	Stomach Mucosa	stomach
29	chr6:30312600-30313800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:30312600-30313800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:30312600-30313800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:30312600-30313800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:30312600-30313800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:30312600-30313800	Active TSS	Fetal Muscle Trunk	muscle
35	chr6:30312600-30313800	Active TSS	Fetal Stomach	stomach
36	chr6:30312600-30313800	Active TSS	Psoas Muscle	Psoas
37	chr6:30312600-30313800	Active TSS	Right Ventricle	heart
38	chr6:30312600-30314000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr6:30312600-30314000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:30312600-30314000	Active TSS	Fetal Intestine Large	intestine
41	chr6:30312600-30314200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:30312800-30313400	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr6:30312800-30313400	Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr6:30312800-30313400	Active TSS	Primary B cells from peripheral blood	blood
45	chr6:30312800-30313400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:30312800-30313400	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr6:30312800-30313400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr6:30312800-30313400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr6:30312800-30313400	Active TSS	Liver	Liver
50	chr6:30312800-30313400	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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